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Acid maltase deficiency and related myopathies
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scholarly article
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Europe PubMed Central
PubMed publication ID
10658172
retrieved
29 July 2017
review article
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Europe PubMed Central
title
Acid maltase deficiency and related myopathies
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10658172
retrieved
29 July 2017
author name string
Amato AA
series ordinal
1
1 reference
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Europe PubMed Central
PubMed publication ID
10658172
retrieved
29 July 2017
language of work or name
English
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publication date
1 February 2000
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Europe PubMed Central
PubMed publication ID
10658172
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29 July 2017
published in
Neurologic Clinics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10658172
retrieved
29 July 2017
volume
18
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10658172
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29 July 2017
issue
1
1 reference
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Europe PubMed Central
PubMed publication ID
10658172
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29 July 2017
page(s)
151-165
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Europe PubMed Central
PubMed publication ID
10658172
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29 July 2017
cites work
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene
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Adult acid maltase deficiency
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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Dietary treatment in late-onset acid maltase deficiency
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A mild adult myopathic variant of type IV glycogenosis
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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Type 3 glycogenosis. An adult with diffuse weakness and muscle wasting
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Glycogen branching enzyme deficiency in adult polyglucosan body disease
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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Polyglucosan body disease
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Clinical varieties of neuromuscular disease in debrancher deficiency
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Myopathies due to enzyme deficiencies
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Muscle computed tomography in adult-onset acid maltase deficiency
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Debrancher deficiency: Neuromuscular disorder in 5 adults
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Adult-onset acid maltase deficiency: A postmortem study
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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The spectrum and diagnosis of acid maltase deficiency.
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Childhood-onset spinocerebellar syndrome associated with massive polyglucosan body deposition.
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Branching enzyme-deficiency glycogenosis: studies in therapy
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Type IIIb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma. The Liver Transplant Group
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Pompe's disease
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Adult myopathy from glycogen storage disease due to acid maltase deficiency
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid α-Glucosidase Locus of Patients of Differing Phenotype
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
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The adult form of acid maltase (alpha-1,4-glucosidase) deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Hereditary branching enzyme dysfunction in adult polyglucosan body disease: A possible metabolic cause in two patients
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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POMPE'S DISEASE (DIFFUSE GLYCOGENOSIS) WITH NEURONAL STORAGE
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Debrancher deficiency neuromuscular disorder with pseudohypertrophy in two brothers
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
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Gross cardiac involvement in glycogen storage disease type 3
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Neuromuscular involvement in glycogen storage disease type III.
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Myopathy associated with Type III glycogenosis
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Skin biopsy findings in glycogenosis III: clinical, biochemical, and electrophysiological correlations
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Biochemical investigation of an unusual case of glycogenosis.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
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Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
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Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
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Peripheral nerve in type III glycogenosis: selective involvement of unmyelinated fiber Schwann cells
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
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Genetic defects in patients with glycogenosis type II (acid maltase deficiency)
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
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Glycogenosis type II (acid maltase deficiency)
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
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Acid maltase deficiency in adults presenting as respiratory failure
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
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Failure of liver transplantation to diminish cardiac deposits of amylopectin and leukocyte inclusions in type IV glycogen storage disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
The muscular variant of Pompe's disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Liver transplantation for type IV glycogen storage disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Severe cardiopathy in branching enzyme deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
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Reversal of debrancher deficiency myopathy by the use of high-protein nutrition.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
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Muscular form of glycogenosis, type II (Pompe)
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Late Infantile Acid Maltase Deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Glycogen storage disease type III associated with ventricular tachycardia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Genotype-phenotype correlation in adult-onset acid maltase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Assignment of the human glycogen debrancher gene to chromosome 1p21.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Retroviral transfer of acid alpha-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Glycogenosis IV: A new cause of infantile hypotonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1
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7 January 2021
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Identifiers
DOI
10.1016/S0733-8619(05)70182-1
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/ip62vj3p7zfmdfakqsyk7h3hhq
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30 July 2022
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mapped directly with Wikidata item
Fatcat ID
release_ip62vj3p7zfmdfakqsyk7h3hhq
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/ip62vj3p7zfmdfakqsyk7h3hhq
retrieved
30 July 2022
based on heuristic
mapped directly with Wikidata item
PubMed publication ID
10658172
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/ip62vj3p7zfmdfakqsyk7h3hhq
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30 July 2022
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mapped directly with Wikidata item
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